Canonical Allele Identifier: CA598115405

Gene: LUZP2

Linked Data

• dbSNP Id: rs1564931683
• gnomAD v2: 11-24837714-C-CCTGCAGTAAGCACACCCCACGTGGTAG
• gnomAD v3: 11-24816168-C-CCTGCAGTAAGCACACCCCACGTGGTAG
• gnomAD v4: 11-24816168-C-CCTGCAGTAAGCACACCCCACGTGGTAG
• MyVariant Identifiers: chr11:g.24837714_24837715insCTGCAGTAAGCACACCCCACGTGGTAG (hg19) ; chr11:g.24816168_24816169insCTGCAGTAAGCACACCCCACGTGGTAG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.24816168_24816169insCTGCAGTAAGCACACCCCACGTGGTAG , CM000673.2:g.24816168_24816169insCTGCAGTAAGCACACCCCACGTGGTAG	GRCh38
NC_000011.9:g.24837714_24837715insCTGCAGTAAGCACACCCCACGTGGTAG , CM000673.1:g.24837714_24837715insCTGCAGTAAGCACACCCCACGTGGTAG	GRCh37
NC_000011.8:g.24794290_24794291insCTGCAGTAAGCACACCCCACGTGGTAG	NCBI36
NG_030588.1:g.324199_324200insCTGCAGTAAGCACACCCCACGTGGTAG

Transcript Alleles

HGVS	Amino-acid change
ENST00000336930.11:c.396+52860_396+52861insCTGCAGTAAGCACACCCCACGTGGTAG MANE Select	ENSP00000336817.6:n.396+52860_396+52861in...
ENST00000336930.10:c.396+52860_396+52861insCTGCAGTAAGCACACCCCACGTGGTAG	ENSP00000336817.6:n.396+52860_396+52861in...
ENST00000405855.6:n.502-15736_502-15735insCTGCAGTAAGCACACCCCACGTGGTAG
ENST00000529015.5:c.396+52860_396+52861insCTGCAGTAAGCACACCCCACGTGGTAG	ENSP00000437032.1:n.396+52860_396+52861in...
ENST00000531187.5:n.670+52860_670+52861insCTGCAGTAAGCACACCCCACGTGGTAG
ENST00000533227.5:c.138+52860_138+52861insCTGCAGTAAGCACACCCCACGTGGTAG	ENSP00000432952.1:n.138+52860_138+52861in...
ENST00000620308.1:c.138+52860_138+52861insCTGCAGTAAGCACACCCCACGTGGTAG	ENSP00000480441.1:n.138+52860_138+52861in...
NM_001009909.3:c.396+52860_396+52861insCTGCAGTAAGCACACCCCACGTGGTAG	NP_001009909.2:n.396+52860_396+52861insCT...
NM_001252008.1:c.138+52860_138+52861insCTGCAGTAAGCACACCCCACGTGGTAG	NP_001238937.1:n.138+52860_138+52861insCT...
NM_001252010.1:c.396+52860_396+52861insCTGCAGTAAGCACACCCCACGTGGTAG	NP_001238939.1:n.396+52860_396+52861insCT...
XM_011520054.1:c.774+52860_774+52861insCTGCAGTAAGCACACCCCACGTGGTAG	XP_011518356.1:n.774+52860_774+52861insCT...
XM_011520055.1:c.774+52860_774+52861insCTGCAGTAAGCACACCCCACGTGGTAG	XP_011518357.1:n.774+52860_774+52861insCT...
XM_011520056.1:c.774+52860_774+52861insCTGCAGTAAGCACACCCCACGTGGTAG	XP_011518358.1:n.774+52860_774+52861insCT...
XM_011520057.1:c.774+52860_774+52861insCTGCAGTAAGCACACCCCACGTGGTAG	XP_011518359.1:n.774+52860_774+52861insCT...
XR_930864.1:n.1148+52860_1148+52861insCTGCAGTAAGCACACCCCACGTGGTAG
XM_011520056.3:c.774+52860_774+52861insCTGCAGTAAGCACACCCCACGTGGTAG	XP_011518358.1:n.774+52860_774+52861insCT...
XM_017017648.2:c.774+52860_774+52861insCTGCAGTAAGCACACCCCACGTGGTAG	XP_016873137.2:n.774+52860_774+52861insCT...
XM_017017649.2:c.774+52860_774+52861insCTGCAGTAAGCACACCCCACGTGGTAG	XP_016873138.2:n.774+52860_774+52861insCT...
XM_024448468.1:c.774+52860_774+52861insCTGCAGTAAGCACACCCCACGTGGTAG	XP_024304236.1:n.774+52860_774+52861insCT...
XR_930864.3:n.1148+52860_1148+52861insCTGCAGTAAGCACACCCCACGTGGTAG
NM_001009909.4:c.396+52860_396+52861insCTGCAGTAAGCACACCCCACGTGGTAG MANE Select	NP_001009909.2:n.396+52860_396+52861insCT...
NM_001252008.2:c.138+52860_138+52861insCTGCAGTAAGCACACCCCACGTGGTAG	NP_001238937.1:n.138+52860_138+52861insCT...
NM_001252010.2:c.396+52860_396+52861insCTGCAGTAAGCACACCCCACGTGGTAG	NP_001238939.1:n.396+52860_396+52861insCT...